Skip to main content

Search
Profile

C Ronald Scott, MD

|
C Ronald Scott, MD

Genetics, Pathology

On staff since October 1964

Overview

Board Certification(s)
Clinical Genetics (MD)
Pediatrics
Clinical Biochemical Genetics
Medical/Professional School
University of Washington School of Medicine, Seattle
Fellowship
Medical Genetics, University of Washington, Seattle

Publications

Design and synthesis of substrates for newborn screening of Maroteaux-Lamy and Morquio A syndromes.
Bioorganic & medicinal chemistry letters , 2010 Oct 15: 5994-6
Direct assay of delta-aminolevulinic acid dehydratase in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry.
Analytical chemistry , 2010 Aug 1: 6730-6
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I.
Clinical chemistry , 2008 Dec: 2067-70
Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme.
Genetics in medicine : official journal of the American College of Medical Genetics , 2008 May: 353-8
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Human mutation , 2008 May: 567-83
Direct assay of enzymes in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry. Porphobilinogen deaminase.
Analytical chemistry , 2008 Apr 1: 2606-11
Direct assay of enzymes in heme biosynthesis for the detection of porphyrias by tandem mass spectrometry. Uroporphyrinogen decarboxylase and coproporphyrinogen III oxidase.
Analytical chemistry , 2008 Apr 1: 2599-605
Waiving informed consent in newborn screening research: balancing social value and respect.
American journal of medical genetics. Part C, Seminars in medical genetics , 2008 Feb 15: 23-30
Tandem mass spectrometry in the detection of inborn errors of metabolism for newborn screening.
Methods in molecular biology (Clifton, N.J.) , 2007: 143-57
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease).
Clinical chemistry , 2007 Jan: 137-40
The genetic tyrosinemias.
American journal of medical genetics. Part C, Seminars in medical genetics , 2006 May 15: 121-6
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
The Journal of biological chemistry , 2006 Feb 17: 4242-53
Human biochemical genetics: an insight into inborn errors of metabolism.
Journal of Zhejiang University. Science. B , 2006 Feb: 165-6
Hematologically important mutations: Gaucher disease.
Blood cells, molecules & diseases , 2005 Nov-Dec: 355-64
Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns.
Clinical chemistry , 2005 May: 898-900
Individualization of long-term enzyme replacement therapy for Gaucher disease.
Genetics in medicine : official journal of the American College of Medical Genetics , 2005 Feb: 105-10
Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotype.
Genetic testing , 2005 Spring: 26-9
Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients.
Seminars in hematology , 2004 Oct: 15-22
Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.
Clinical chemistry , 2004 Oct: 1785-96
Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.
Clinical chemistry , 2004 Oct: 1785-96
Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese family.
American journal of medical genetics. Part A , 2004 Mar 15: 257-60
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease.
Clinical chemistry , 2004 Mar: 638-40
Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations.
The Journal of pediatrics , 2004 Jan: 112-20
The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation.
Blood cells, molecules & diseases , 2003 Sep-Oct: 187-9; discussion 190-1
Automated affinity capture-release of biotin-containing conjugates using a lab-on-valve apparatus coupled to UV/visible and electrospray ionization mass spectrometry.
Analytical chemistry , 2002 Sep 15: 4702-8
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry.
The American journal of medicine , 2002 Aug 1: 112-9
Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S).
American journal of medical genetics , 2002 May 15: 328-31

Primary Office

University of Washington
UW Box 356320 - Genetics
1959 NE Pacific St
Seattle, WA 98195-6320
206-543-3370

Find a Doctor or Researcher

Find a Doctor or Researcher

Type the first or last name you are searching for or select a specialty.

Doctor or Researcher Name:

More search options